{
    "disease_id": "DOID:0111982",
    "recommended_name": {
        "id": "DOID:0111982",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111982",
        "name": "immunodeficiency 56",
        "description": "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111982",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111982",
            "name": "IL21R immunodeficiency",
            "description": ""
        },
        {
            "id": "DOID:0111982",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111982",
            "name": "IMD56",
            "description": ""
        },
        {
            "id": "DOID:0111982",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111982",
            "name": "combined immunodeficiency due to IL21R deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014082",
            "name": "cryptosporidiosis-chronic cholangitis-liver disease syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014082",
            "name": "cryptosporidiosis-chronic cholangitis-liver disease syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014082",
            "name": "IMD56",
            "description": ""
        },
        {
            "id": "MIM:615207",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615207",
            "name": "Immunodeficiency 56",
            "description": "Immunodeficiency 56"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111982"
    ],
    "unlinked_id_list": []
}